SheelJPathakMD

PubMed

• Apparent resolution of hypersomnia episodes in two patients with Kleine-Levin syndrome following treatment with the melatonin receptor agonist ramelteon.
  Dayana Dominguez, Robert Rudock, Stuart Tomko, Sheel Pathak, Emmanuel Mignot, Amy Licis> ;Journal of Clinical Sleep Medicine. 2024 Apr 1
• 3 citations
  Phenotypic, molecular, and functional characterization of COQ7-related primary CoQdeficiency: Hypomorphic variants and two distinct disease entities.
  Parith Wongkittichote, Maria Laura Duque Lasio, Martina Magistrati, Sheel Pathak, Brooke Sample, Daniel Rocha Carvalho, Adriana Banzzatto Ortega, Matheus Augusto Araúj...> ;Molecular Genetics and Metabolism. 2023 Aug 1
• 7 citations
  Epilepsy and related challenges in children with COL4A1 and COL4A2 mutations: A Gould syndrome patient registry.
  Danielle Boyce, Sheena McGee, Lisa M. Shank, Sheel Pathak, Douglas B. Gould> ;Epilepsy & Behavior. 2021 Dec 1
• 16 citations
  Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders
  Adeline Vanderver, Geneviève Bernard, Guy Helman, Omar Sherbini, Ryan Boeck, Jeffrey Cohn, Abigail Collins, Scott Demarest, Katherine Dobbins, Lisa Emrick, Jamie L. Fr...> ;Annals of Neurology. 2020 Aug 1
• 7 citations
  Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.
  Hannah Elisabeth Smashey Lewis, Debopam Samanta, Jenny Li Örsell, Katherine A. Bosanko, Amy C. Rowell, Melissa Jones, Russell C. Dale, Sasidharan Taravath, Cecil D. Ha...> ;Pediatric Neurology. 2020 Apr 13
• 17 citations
  Mutations in the PH Domain of DNM1 are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalities.
  Emily Brereton, Emily Fassi, Gabriel C. Araujo, Jonathan N. Dodd, Aida Telegrafi, Sheel Pathak, Marwan Shinawi> ;Molecular Genetics & Genomic Medicine. 2018 Feb 4
• 33 citations
  Neurologic and neuroimaging manifestations of Cantú syndrome A case series
  Christopher R. Leon Guerrero, Sheel Pathak, Dorothy K. Grange, Gautam K. Singh, Colin G. Nichols, Jin-Moo Lee, Katie D. Vo> ;Neurology. 2016 Jul 19
• 12 citations
  Fatal human herpesvirus 6-associated encephalitis in two boys with underlying POLG mitochondrial disorders
  Duha Al-Zubeidi, Mathula Thangarajh, Sheel Pathak, Chunyu Cai, Bradley L. Schlaggar, Gregory A. Storch, Dorothy K. Grange, Michael E. Watson> ;Pediatric Neurology. 2014 Sep 1
• Nocturnal variant of benign myoclonic epilepsy of infancy: a case series
  Aparna M. Prabhu, Sheel Pathak, Divya S. Khurana, Agustin Legido, Karen S. Carvalho, Ignacio Valencia> ;Epileptic Disorders. 2014 Mar 1
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